PCCB

Protein identityUniProt · HPA

UniProt accession

P05166

Gene

PCCB

Ensembl

ENSG00000114054

Chromosome

3

Canonical length

539 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

539 residues, UniProt reviewed canonical sequence.

>P05166|PCCB
     1  MAAALRVAAV GARLSVLASG LRAAVRSLCS QATSVNERIE NKRRTALLGG GQRRIDAQHK
    61  RGKLTARERI SLLLDPGSFV ESDMFVEHRC ADFGMAADKN KFPGDSVVTG RGRINGRLVY
   121  VFSQDFTVFG GSLSGAHAQK ICKIMDQAIT VGAPVIGLND SGGARIQEGV ESLAGYADIF
   181  LRNVTASGVI PQISLIMGPC AGGAVYSPAL TDFTFMVKDT SYLFITGPDV VKSVTNEDVT
   241  QEELGGAKTH TTMSGVAHRA FENDVDALCN LRDFFNYLPL SSQDPAPVRE CHDPSDRLVP
   301  ELDTIVPLES TKAYNMVDII HSVVDEREFF EIMPNYAKNI IVGFARMNGR TVGIVGNQPK
   361  VASGCLDINS SVKGARFVRF CDAFNIPLIT FVDVPGFLPG TAQEYGGIIR HGAKLLYAFA
   421  EATVPKVTVI TRKAYGGAYD VMSSKHLCGD TNYAWPTAEI AVMGAKGAVE IIFKGHENVE
   481  AAQAEYIEKF ANPFPAAVRG FVDDIIQPSS TRARICCDLD VLASKKVQRP WRKHANIPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCCB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

189 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCCB.

Disease | AllUniProt

Conditions PCCB is implicated in, by any mechanism.

• Propionic acidemia type II (PA-2) MIM:606054

Disease | GeneticClinVar

271 pathogenic / likely-pathogenic of 1,358 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Propionic acidemia
• PCCB-related disorder
• Inborn genetic diseases
• Abnormality of metabolism/homeostasis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.89

gnomAD pLI

0

gnomAD missense Z

-0.87

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branched-chain amino acid metabolic process
• fatty acid metabolic process
• short-chain fatty acid catabolic process

Molecular functions

• ATP binding
• propionyl-CoA carboxylase activity

Cellular components

• catalytic complex
• cytosol
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Acetyl-coenzyme A carboxyltransferase, N-terminal
• Acetyl-coenzyme A carboxyltransferase, C-terminal
• ClpP/crotonase-like domain superfamily
• Acetyl-coenzyme A carboxylase carboxyl transferase subunit beta
• Carboxyl transferase domain
• Acyl-CoA Carboxylase Beta Subunit

KeywordsUniProt

• Acetylation
• ATP-binding
• Ligase
• Mitochondrion
• Nucleotide-binding
• Phosphoprotein
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of PCCB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MCCC1
• NDUFS7
• PCCA